Title: | P14.042B – Clinical Application of a Facial Dysmorphology Tool: a performance analysis |
Keywords: | Facial Dysmorphology Tool |
Authors: | D. Lopergolo1, A. Currò1, A. M. Pinto1, C. Lo Rizzo1, M. Baldassarri1, G. Cevenini2, M. A. Mencarelli1, F. Mari1, A. Renieri1; 1Medical Genetics, Department of Medical Biotechnologies, University of Siena, Siena, Italy, 2Department of Medical Biotechnologies, University of Siena, Siena, Italy. |
Abstract: | Diagnosis of genetic syndromes associated with facial dysmorphology in children is a real challenge. The rarer the syndrome, the hardest reaching the diagnose. Computer-aided dysmorphology analysis enables to benefit from the cumulative knowledge of geneticists worldwide. Face2Gene (FDNA Inc. Boston, MA) is an analytic tool that utilizes the Facial Dysmorphology Novel Analysis technology to identify facial patterns associated with genetic syndromes analyzing two-dimensional facial photos. For each case, Face2Gene provides a ranked list of up to 30 possible syndrome matches based on anthropometric measurements, phenotypic features and frontal facial photos submitted. In this study, we aimed to measure the tools performance with patients followed at Clinical Genetics in the University of Siena. Frontal and often lateral pictures of 444 cases were uploaded, among which sixty cases with clinical and/or molecular diagnosis (syndromes diagnosed were 6% Nicolaides-Baraitser, 16% Rett, 10% Pitt-Hopkins, 6% Coffin-Siris, 6% Cohen, 6% Kabuki, 16% other). F2G matched correct diagnosis as first hypothesis in 33,3%; as first 5 hypotheses in 41,6%;as first 10 hypotheses in 46,6% of cases. Although these results do not prove the systematic efficacy of F2G tools usage in the clinical practice, it should be taken into account that in some cases, pictures quality and the lack of anthropometric measurements due to F2G continue updates could have affected the results of dysmorphology analysis. Therefore, although F2G database still lacks some syndromes, we envision that in the future it can be improved to help the clinicians reaching a diagnose validating his idea about a clinical case. |
Presentation Time: | Sunday, May 28, 2017, 4:45 PM – 5:45 PM |
More entries about Scientific Abstracts
FDNA and Face2Gene Featured at ESHG
A flock of researchers from around the globe shared their findings in dysmorphology and molecular genetics at this year’s Read more
Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era
Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):320-328. doi: 10.1002/ajmg.c.31568. Epub 2017 Aug 2. Carey JC. Abstract: The designation, Read more
S. Odent, et al. Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses
Title: P09.022B – Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses Read more
N. Ekhilevitch, et al. Automated patient matching from facial photos – initial feasibility study
Title: P14.075C – Automated patient matching from facial photos – initial feasibility study Automated patient matching from facial photos – Read more
S. B. Kamphausen, M. Zenker. From Face to Gene – Identifying the Genotype of RASopathies with FDNA. ESHG 2017
Title: P14.083C – From Face to Gene – Identifying the Genotype of RASopathies with FDNA Keywords: RASopathies; Facial Dysmorphology Novel Read more
M. A. Mencarelli, et al. Clinical Application of a Facial Dysmorphology Tool: a performance analysis
Title: P14.042B – Clinical Application of a Facial Dysmorphology Tool: a performance analysis Keywords: Facial Dysmorphology Tool Authors: D. Lopergolo1, Read more
L. Morlan. The utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & intellectual disability
Title: P14.041A – the utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & Read more
T. Liehr. Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos
Title: P14.003C – Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos Read more
Himanshu Goel, et al. Case study: Next-generation phenotyping complementing next generation sequencing
Abstract Number: (501) Case study: Next-generation phenotyping complementing next generation sequencing Topic: Clinical Genetics Presenting Author: Himanshu Goel Co-Authors: Z. Yüksel, Centogene AG, Rostock, Read more
B. Russell, et al. Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool
Abstract Number: (384) Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool Topic: Clinical Genetics Presenting Read more